This case report summarizes an unusual case of advanced heart failure in a 45-year-old female patient with a family history of cardiac issues. Cardiac imaging and genetic testing revealed a desmin gene mutation that caused restrictive cardiomyopathy and atrioventricular block. Due to the patient's progressive worsening symptoms, an ICD was implanted and she was placed on the cardiac transplant waiting list. Desminopathies are a rare cause of restrictive cardiomyopathy and conduction abnormalities that typically present in younger patients, as seen in this case.

1. An unusual case of advanced
heart failure. Family matters
F. Macaya Ten, J. Pons, L. Asmarats, A. Grau,
P. Pericas, A. Bethencourt
Hospital Son Espases, Palma de Mallorca (ES)

2. Disclosures
No potential conflicts of interest to be disclosed
F. Macaya Ten et al

3. • 45 year-old female admitted with CHF
• PMHx:
– Pacemaker at age 23 for congenital AV block
– Persistent atrial flutter
• FHx: multiple relatives in paternal side had
dysrhythmias and sudden death before age 65
• Good response to conventional treatment

4. 2D TTE
Morphology
and function

5. Cardiac Magnetic resonance
DIASTOLOGY

6. LV
RV
RA
LV
RESTRICTIVE PHYSIOLOGY
HEMODYNAMICS

7. FAMILY´S PEDIGREE
Desmin gene
I367F
MUTATION
Amyloidosis VS Desminopathy

8. Diagnosis
Restrictive cardiomyopathy & AV block
secondary to desmin mutation I367F
M R OH GAD E G DES I367F SD III-IV

9. Evolution
• ICD was implanted
• Progressive worsening NYHA functional class
• Neuromyologist ruled out myopathy
• Included in cardiac transplant waiting list

10. Learning Points - Desminopathies
• AD
• Very rare 5:10,000
• Third-fourth decade of life
• Male worse prognosis
• Skeletal and/or Heart (2/3)
– AV block
– Restrictive cardiomyopathy
• Definitive diagnosis: EMB (e- microscop)
• Tx: ICD and heart transplantation

11. • AV block and/or diastolic HF in young patients should
raise suspicion and warrant further evaluation
• Family history is essential in young patients with CHF
• Autologous transplant is an important treatment option
for isolated cardiac phenotypes of desminopathies
Learning Points

12. Thank you for your attention